Statistical analysis of uniparental disomy data using hidden Markov models

Biometrics. 2001 Dec;57(4):1074-9. doi: 10.1111/j.0006-341x.2001.01074.x.


Genetic studies of uniparental disomy (UPD) employing many markers have helped geneticists to gain a better understanding of the molecular mechanisms underlying nondisjunction. However, most existing methods cannot simultaneously analyze all genetic markers and consistently incorporate crossover interference; they thus fail to make the most use of genetic information in the data. In the present article, we describe a hidden Markov model for multilocus uniparental disomy data. This method is based on the chi-square model for the crossover process and can simultaneously incorporate all marker information including untyped and uninformative markers. We then apply this novel method to analyze a set of UPD15 data.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Biometry
  • Chi-Square Distribution
  • Chromosomes, Human, Pair 15 / genetics
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Markov Chains*
  • Models, Genetic
  • Models, Statistical
  • Uniparental Disomy*


  • Genetic Markers